Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies.

Determine the effectiveness & selectivity of rituximab at depleting CSF B-cells in OMS with intrathecal B-cell expansion. This requires CSF & blood lympocyte immunophenotyping prior to the first infusion & intervals for 1 year after the final infusion.

Evaluate the clinical efficacy & safety of rituximab by clinical assessments, scoring of videotapes for neurological severity, and various blood tests prior to the first infusion and then at one, three, six, and twelve months post the final infusion.

25

All

6 Months to 19 Years (Child, Adult)

NCT00244361

IND #11,771SCRIHS (04-112)

June 2005

December 2007

December 2007

October 26, 2005

May 10, 2011

National Pediatric Myoclonus Center, Department of Neurology, SIU School of Medicine, 751 N Rutledge StSpringfield, Illinois, United States